文本2015-細(xì)遺實(shí)驗(yàn)chapter7human genetic disease and counseling

1、Cellular and Medical Genetics ExperimentsThe Key Laboratory of Developmental Genes and Human Disease, Ministry of Education, Southeast University. Zehui Hong, Ph.D.Association professorChapter 7 Human genetic disease and gentic counselingExperiment Aim1. Be familiar with the concept, characteristics

2、 and classfication of some human genetic disease 2. Know the basic protocal of genetic counseling3. Cultivate students responsibility of forming good and noble doctorsExperiment materilas Human genetic disease casesGenetic counseling 由咨詢醫(yī)師和咨詢者（遺傳病患者或其親屬）就某種遺傳病在一個(gè)家庭中的發(fā)生、復(fù)發(fā)風(fēng)險(xiǎn)和防治上所面臨的問(wèn)題，進(jìn)行一系列的交談和討論，使咨詢

3、者及其家屬對(duì)這種遺傳病有基本的認(rèn)識(shí)，選擇出最恰當(dāng)?shù)膶?duì)策，并在咨詢醫(yī)師的幫助下付諸實(shí)施，以獲得最佳防治效果的過(guò)程。Genetic counseling is a procedure carried out by referring consultands and counselors (genetic doctor). They discuss the recurrent risk and the prevention and cure of a hereditary disease in a family, make the right choice and put it into pract

4、ice under the assistance of the referring doctor. Genetic counseling is a very complex procedure and can not be finished by one consultation. It usually include the following parts: 1. Preparation of the consultation2. The first consultation3. The second consultation4. Follow-up visitThe procedure o

5、f genetic counselingThe procedure of genetic counselingFirst consultation Second consultation Analysis of hereditary patternAnalysis of recurrenceriskMarital and fertility instructionsmedical historyclinical featureclinical diagnosisfamilyinvestigation家系情況：系譜臨床診斷遺傳方式再發(fā)風(fēng)險(xiǎn)婚育指導(dǎo)家系情況：系譜臨床診斷遺傳方式再發(fā)風(fēng)險(xiǎn)婚育指導(dǎo)1、

6、正常生育2、產(chǎn)前診斷3、冒風(fēng)險(xiǎn)再次生育（4%-6%）4、不再生育5、人工授精6、過(guò)繼或認(rèn)領(lǐng)7、終止戀愛或婚約It is important that information is given in a way that the consultands can understand.It is useful to ask them what they understand about genetics before attempting to explain the nature of the disease.The consellor should aim to make the consul

7、tands aware of the risk of having an affected child, the possible means of prevention including prenatal diagnosis and carrier detection, and treatment of the disease. Counselling should be non-judgemental and non-directive.Some important points in genetic counselling苯丙酮尿癥(PKU)絡(luò)氨酸脫羧酶Tyrosine decarbo

8、xylaseL-谷氨酸脫羧酶glutamate decarboxylase5-羥色胺脫羧酶5- hydroxytryptamine decarboxylase去甲腎上腺素腎上腺素黑色素-氨基丁酸5-羥色胺苯丙氨酸有特殊的氣味；黑色素合成減少，患者的眼睛、毛發(fā)和膚色較淺； 5-羥色胺合成減少，影響大腦發(fā)育。microcephaly小頭畸形Huntington chorea2/3 磷酸肌酸激酶 CPKDuchenne muscular dystrophy DMD 杜氏肌營(yíng)養(yǎng)不良D/G平衡易位攜帶者遺傳圖解 45, XX, -14, -21, +t(14; 21)(p11; q11)45, XX, -13, -13, +t(13; 13)(p11; q11)13 1313/13醫(yī)師：有什么問(wèn)題？咨